Actively Recruiting
Genomic Services Research Program
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-05-07
5000
Participants Needed
1
Research Sites
745 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Genes are the instructions a person s body uses to function. Genome sequencing reads through all of a person s genes. Everyone has many gene variants, and most do not cause disease. Some gene variants called secondary findings may be important for a person s health even if they are not related to the reason why a person had genome sequencing done. Researchers want to learn more about what it means to have a secondary finding. Objectives: To learn about how gene variants may affect a person s health. To learn about how people understand their genetic test results. Eligibility: People with secondary findings from genetic testing done as part of a research study, clinical care, or other methods. Design: Participants may be asked to do an online survey and phone interview to ask what they think about their results, their healthcare, and if they talk with their family about the result. Eligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding. DNA samples that were already collected may be studied. Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings. Participants who have a secondary finding can get genetic counseling.
CONDITIONS
Official Title
Genomic Services Research Program
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Received a secondary finding from genetic testing done as part of research, clinical care, or other methods
- English or Spanish speaking
- Age between 1 month and 105 years
- Caregivers can participate on behalf of minors or adults unable to consent
- Child participants may be enrolled if they are the only family member with the secondary finding, symptomatic, or within the age range for disease screening
- Adults unable to consent may be enrolled under the same conditions
- Pregnant women may enroll and continue participation during pregnancy
- NIH staff who meet eligibility criteria may participate
You will not qualify if you...
- Neonates younger than one month old
- Secondary finding not deemed at least likely pathogenic after review
- Participants whose genetic result does not qualify as a secondary finding after consent
- Prenatal genetic testing is not performed
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
J
Julie C Sapp
CONTACT
L
Leslie G Biesecker, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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